Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report

<strong>Background</strong> We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. <br> <strong>Case presentation</strong> A 43-year-old fe...

Podrobná bibliografie
Hlavní autoři:	Al-Khuzaei, S, Hudspith, KAZ, Broadgate, S, Shanks, ME, Clouston, P, Németh, AH, Halford, S, Downes, SM
Médium:	Journal article
Jazyk:	English
Vydáno:	BioMed Central 2021

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